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Items: 1 to 20 of 401

1.
A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases
Reema Iskafi, Bahaa AbuRahmeh, Roa’a Aljuneidi, Hidaya AlShweiki, Siraj Abdelnabi, Anas Abukhalaf, Bara’ Maraqa
J Investig Med High Impact Case Rep. 2025 Jan-Dec; 13: 23247096251313731. Published online 2025 Jan 22. doi: 10.1177/23247096251313731
PMCID:
PMC11755523
ArticlePDF–966K
2.
Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature
Jan Fischer, Mariëlle Alders, Marcel M. A. M. Mannens, David Genevieve, Karl Hackmann, Evelin Schröck, Bekim Sadikovic, Joseph Porrmann
Clin Epigenetics. 2025; 17: 5. Published online 2025 Jan 13. doi: 10.1186/s13148-024-01807-7
PMCID:
PMC11727325
ArticlePDF–1.1M
3.
Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition
Emily O'Keefe, Matthew Kiernan, William Huynh
Eur J Neurol. 2025 Jan; 32(1): e70006. Published online 2025 Jan 6. doi: 10.1111/ene.70006
PMCID:
PMC11702487
ArticlePDF–312K
4.
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants
Manon Degoutin, Chloé Angelini, Claire Bar, Wahiba Amer El Khedoud, Christine Barnerias, Razika Boulariah‐Hadjou, Mehrdad A. Estiar, Claire Ewenczyk, Ziv Gan‐Or, Didier Lacombe, Claire Lefeuvre, Purvi Majethia, Mouna Messaoud‐Khelifi, Dhanya Lakshmi Narayanan, Guy A. Rouleau, Oksana Suchowersky, Anju Shukla, Marine Guillaud‐Bataille, Giovanni Stevanin, Cyril Goizet
Eur J Neurol. 2025 Jan; 32(1): e70025. Published online 2024 Dec 27. doi: 10.1111/ene.70025
PMCID:
PMC11680745
ArticlePDF–908K
5.
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte‐lineage cells established from patients with Sjögren‐Larsson syndrome
Yu Yamaguchi, Hironobu Okuno, Suzumi Tokuoka, Yoshihiro Kita, Tsukasa Sanosaka, Jun Kohyama, Kenji Kurosawa, Norio Sakai, Fuyuki Miya, Takao Takahashi, Kenjiro Kosaki, Hideyuki Okano
Congenit Anom (Kyoto) 2025 Jan-Dec; 65(1): e12587. Published online 2024 Dec 1. doi: 10.1111/cga.12587
PMCID:
PMC11608845
ArticlePDF–12M
6.
Small Complex Rearrangement in HINT1-Related Axonal Neuropathy
Alessandra Tessa, Mariapaola Schifino, Eliana Salvo, Rosanna Trovato, Luca Cesana, Silvia Frosini, Rosa Pasquariello, Giada Sgherri, Roberta Battini, Maria Clara Bonaglia, Filippo Maria Santorelli, Guja Astrea
Genes (Basel) 2024 Nov; 15(11): 1483. Published online 2024 Nov 19. doi: 10.3390/genes15111483
PMCID:
PMC11593638
ArticlePDF–4.2M
7.
Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene
Dan Mu, Yanting Yang, Yao Liu, Ying Shen, Hongqian Liu, Jing Wang
Orphanet J Rare Dis. 2024; 19: 423. Published online 2024 Nov 12. doi: 10.1186/s13023-024-03369-6
PMCID:
PMC11555936
ArticlePDF–1.1M
8.
PHARC syndrome: an overview
Lusine Harutyunyan, Patrick Callaerts, Sascha Vermeer
Orphanet J Rare Dis. 2024; 19: 416. Published online 2024 Nov 5. doi: 10.1186/s13023-024-03418-0
Correction in:
Orphanet J Rare Dis. 2025; 20: 10.
PMCID:
PMC11539745
ArticlePDF–1.2M
9.
Revising pathogenesis of AP1S1-related MEDNIK syndrome: a missense variant in the AP1S1 gene as a causal genetic lesion
Marketa Rackova, Rafael Mattera, Michael Svaton, Filip Fencl, Veronika Kanderova, Karolina Spicakova, Sang Yoon Park, Ondrej Fabian, Miroslav Koblizek, Eva Fronkova, Juan S. Bonifacino, Karolina Skvarova Kramarzova
J Mol Med (Berl) 2024; 102(11): 1343–1353. Published online 2024 Sep 13. doi: 10.1007/s00109-024-02482-0
PMCID:
PMC11525306
ArticlePDF–2.1M
10.
Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype–Phenotype Correlation
Rebecca Finnegan, Mary O'Regan, Máire White, Gianpiero L. Cavalleri, Norman Delanty, Katherine A. Benson, Marie T. Greally
Mol Genet Genomic Med. 2024 Sep; 12(9): e70010. Published online 2024 Sep 23. doi: 10.1002/mgg3.70010
PMCID:
PMC11418404
ArticlePDF–289K
11.
A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly
Miryam Rosa Stella Foti, Maria Giovanna Tedesco, Davide Colavito, Daniela Rogaia, Amedea Mencarelli, Monica Schippa, Cristina Gradassi, Rita Romani, Carmela Ardisia, Paolo Prontera
Int J Mol Sci. 2024 Sep; 25(17): 9676. Published online 2024 Sep 6. doi: 10.3390/ijms25179676
PMCID:
PMC11395583
ArticlePDF–6.4M
12.
Chronic pharmacologic manipulation of dopamine transmission ameliorates metabolic disturbance in Trappc9-linked brain developmental syndrome
Yan Li, Muhammad Usman, Ellen Sapp, Yuting Ke, Zejian Wang, Adel Boudi, Marian DiFiglia, Xueyi Li
JCI Insight. 2024 Aug 8; 9(15): e181339. Published online 2024 Jun 18. doi: 10.1172/jci.insight.181339
PMCID:
PMC11383600
ArticlePDF–18M
13.
A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants
Maria Carla Borroto, Coralie Michaud, Chloé Hudon, Pankaj B. Agrawal, Katherine Agre, Carolyn D. Applegate, Alan H. Beggs, Hans T. Bjornsson, Bert Callewaert, Mei-Jan Chen, Cynthia Curry, Orrin Devinsky, Tracy Dudding-Byth, Kelly Fagan, Candice R. Finnila, Ralitza Gavrilova, Casie A. Genetti, Susan M. Hiatt, Friedhelm Hildebrandt, Monica H. Wojcik, Tjitske Kleefstra, Caroline M. Kolvenbach, Bruce R. Korf, Paul Kruszka, Hong Li, Jessica Litwin, Julien Marcadier, Konrad Platzer, Patrick R. Blackburn, Margot R. F. Reijnders, Heiko Reutter, Ina Schanze, Joseph T. Shieh, Cathy A. Stevens, Zaheer Valivullah, Marie-José van den Boogaard, Eric W. Klee, Philippe M. Campeau
Genes (Basel) 2024 Aug; 15(8): 1033. Published online 2024 Aug 6. doi: 10.3390/genes15081033
PMCID:
PMC11353349
ArticlePDF–946K
14.
Clinical features of a novel compound heterozygous genotype of the BBS2 gene: a case report
Mojiang Li, Yingshu Li, Ting Wen, Haiyan Zhou, Wanqin Xie
J Int Med Res. 2024 Aug; 52(8): 03000605241274239. Published online 2024 Aug 22. doi: 10.1177/03000605241274239
PMCID:
PMC11344895
ArticlePDF–542K
15.
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder
Rabia Faridi, Alessandro Rea, Cristina Fenollar-Ferrer, Raymond T. O’Keefe, Shoujun Gu, Zunaira Munir, Asma Ali Khan, Sheikh Riazuddin, Michael Hoa, Sadaf Naz, William G. Newman, Thomas B. Friedman
Hum Genet. Author manuscript; available in PMC 2024 Aug 18.
Published in final edited form as: Hum Genet. 2022 Apr; 141(3-4): 805–819. Published online 2021 Aug 2. doi: 10.1007/s00439-021-02319-7
PMCID:
PMC11330641
ArticlePDF–1.6M
16.
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability
Claire E L Smith, Virginie Laugel-Haushalter, Ummey Hany, Sunayna Best, Rachel L Taylor, James A Poulter, Saskia B Wortmann, Rene G Feichtinger, Johannes A Mayr, Suhaila Al Bahlani, Georgios Nikolopoulos, Alice Rigby, Graeme C Black, Christopher M Watson, Sahar Mansour, Chris F Inglehearn, Alan J Mighell, Agnès Bloch-Zupan
J Med Genet. 2024 Jul; 61(7): 689–698. Published online 2024 Mar 8. doi: 10.1136/jmg-2023-109728
PMCID:
PMC11228227
ArticlePDF–3.7M
17.
A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17
Takeo Mukai, Shota Kato, Hiroyuki Tanaka, Yukiko Kuroda, Hiroki Kitaoka, Atsushi Ito, Yoshihiko Shitara, Kohei Kashima, Hirokazu Takami, Naoto Takahashi, Motohiro Kato
Mol Genet Genomic Med. 2024 Jul; 12(7): e2452. Published online 2024 Jul 5. doi: 10.1002/mgg3.2452
PMCID:
PMC11224963
ArticlePDF–3.3M
18.
SCAPER-Related Autosomal Recessive Retinitis Pigmentosa with Intellectual Disability: Confirming and Extending the Phenotypic Spectrum and Bioinformatics Analyses
Rajech Sharkia, Abdelnaser Zalan, Amit Kessel, Wasif Al-Shareef, Hazar Zahalka, Holger Hengel, Ludger Schöls, Abdussalam Azem, Muhammad Mahajnah
Genes (Basel) 2024 Jun; 15(6): 791. Published online 2024 Jun 16. doi: 10.3390/genes15060791
PMCID:
PMC11203295
ArticlePDF–5.4M
19.
Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry
Alberto Lopez-de la Rosa, Juan J. Telleria, Manuel Posada de la Paz, Isabel M. Hermosilla-Gimeno, Miren Agurtzane Rivas, Raúl Gilabert, Rosa M. Coco-Martín
Orphanet J Rare Dis. 2024; 19: 234. Published online 2024 Jun 13. doi: 10.1186/s13023-024-03242-6
PMCID:
PMC11170770
ArticlePDF–1.8M
20.
A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred
Muhammad A. Usmani, Amama Ghaffar, Mohsin Shahzad, Javed Akram, Aisha I. Majeed, Kausar Malik, Khushbakht Fatima, Asma A. Khan, Zubair M. Ahmed, Sheikh Riazuddin, Saima Riazuddin
Genes (Basel) 2024 May; 15(5): 580. Published online 2024 May 2. doi: 10.3390/genes15050580
PMCID:
PMC11121239
ArticlePDF–2.6M

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